A3S (p.Ala3Ser) variant of LAMC2 (Laminin subunit gamma-2)
A3S (p.Ala3Ser) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- Ensembl rs1658148101
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.32
- SIFT 0.07
- Population evidence available
- Structural context available